Zbigniew K. Wszołek

This study conducts a genome-wide association study of copy number variations in Parkinson's disease, identifying a significant PRKN deletion but limited replication in an independent dataset.

The paper assesses the frequency of dystonia-linked pathogenic variants in Parkinson's disease patients and finds they are present in 0.57% of cases, with GCH1 being the most common gene affected.

This study identifies novel plasma proteins associated with KIF5A-linked SPG10 and ALS using targeted proteomics, revealing distinct proteomic signatures and potential biomarkers.

This study examines the distribution of α-synuclein oligomers in LRRK2-related Parkinson's disease, finding a negative correlation between oligomers and Lewy-related pathology.

This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.

This paper develops and characterizes novel phospho-ubiquitin antibodies to detect low levels of p-S65-Ub, a marker of mitochondrial damage, in cells and tissues.

The paper identifies miR-29 and ATG9A as regulators of mitophagy and discovers EOPD-linked variants in ATG9A.

This study shows that defects in mitochondrial biogenesis, not mitophagy, are the primary cause of mitochondrial alterations in PINK1-deficient human dopamine neurons.

This study identifies genetic modifiers of LRRK2 mutations in Parkinson's disease, finding a significant variant in CORO1C and a polygenic risk score effect on penetrance.

This study investigates associations between mitochondrial genomic variation and risk of Corticobasal Degeneration (CBD) and Progressive Supranuclear Palsy (PSP), as well as tau pathology measures in PSP.

The paper identifies Parkinson's risk variants in a SNCA enhancer by analyzing open chromatin in mouse dopamine neurons and validates their function in zebrafish and mice.